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715504003: Spastic paraparesis co-occurrent with deafness (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302850010 Spastic paraparesis co-occurrent with deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302851014 Spastic paraparesis co-occurrent with deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302852019 Spastic paraparesis and deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302853012 Wells Jankovic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400931018 A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400932013 A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraparesis co-occurrent with deafness (disorder) Is a Degenerative brain disorder true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Disorder of skeletal muscle true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Disorder of lower limb true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Spastic paraparesis true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Finding site Lower limb structure true Inferred relationship Some 4
Spastic paraparesis co-occurrent with deafness (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Spastic paraparesis co-occurrent with deafness (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 3
Spastic paraparesis co-occurrent with deafness (disorder) Has interpretation Increased true Inferred relationship Some 5
Spastic paraparesis co-occurrent with deafness (disorder) Interprets Muscle tone true Inferred relationship Some 5
Spastic paraparesis co-occurrent with deafness (disorder) Associated morphology Degeneration false Inferred relationship Some 6
Spastic paraparesis co-occurrent with deafness (disorder) Finding site Brain tissue structure false Inferred relationship Some 6
Spastic paraparesis co-occurrent with deafness (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spastic paraparesis co-occurrent with deafness (disorder) Finding site Brain tissue structure false Inferred relationship Some 1
Spastic paraparesis co-occurrent with deafness (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a Hearing loss true Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Interprets Hearing true Inferred relationship Some 6
Spastic paraparesis co-occurrent with deafness (disorder) Finding site Brain structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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